Factor X Variant Database
Variant
ID: 98
Type Deletion
Effect Frameshift
cDNA Change c.814delC
Amino Acid Change p.(Leu272*) (Legacy AA No. 232)
Domain Serine Protease
Sequence Context
Location Exon 7
Minor Allele Frequency (MAF)
Pathogenicity (ACMG)Definition Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic TBA
Comments on Variant

For missense variants click here to view amino-acid sequence comparison.

The details of the cases reported with the above variant are listed below

Case ID Other Variants
found in case
Genotype FX:C (%) intrinsic FX:C (%) extrinsic FX:C (%) RVV FX:C (%) unknown FX:Ag (%) Reported
Bleeding Severity
Gender of Case Published Reference Comments on Case
4
1
Heterozygous 14 36 Mild Not Reported Reddy et al 1989 Postoperative bleeding; probable compound heterozygote